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Varaico: Literature-Extracted Genetic Variants
hg38
Include likely false extractions
Gene:
NOBOX
Variant:
p.G98Splc
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NOBOX
NM_001080413.3:p.G98Splc
hg38:chr7:144401620 G>A
Frequencies & domains
Associated Papers
Novel NOBOX loss-of-function mutations account for 6.2% of cases in a large primary ovarian insufficiency cohort.
Bouilly J et al.
Human Mutation,
2011
21837770 (PubMed
)
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